SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS199562917 ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS199563733 PGK1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS199563828 APOC2 Health Risk Pathogenic/Likely pathogenic Familial apolipoprotein C-II deficiency, Cardiovascular phenotype
RS199564182 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS199564260 MYH11 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Familial thoracic aortic aneurysm and aortic dissection
RS199564404 NR2E3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 37, Enhanced S-cone syndrome
RS199564783 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS199564797 SELENON Health Risk Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy, Congenital myopathy with fiber type disproportion
RS199564845 TTN Health Risk Conflicting classifications of pathogenicity —
RS199565036 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS199565118 FLNA Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Heterotopia
RS199565469 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199565633 SLC34A1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic nephrolithiasis/osteoporosis 1, Hypercalcemia
RS199565715 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS199565861 ASPA Health Risk Conflicting classifications of pathogenicity Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS199565862 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS199565939 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS199566483 PCNT Health Risk Pathogenic/Likely pathogenic —
RS199566527 NOG Health Risk Conflicting classifications of pathogenicity NOG-related disorder, NOG-related disorder
RS199566869 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS199566950 ARSG Health Risk Conflicting classifications of pathogenicity Usher syndrome, type 4
RS199567025 ADA2 Health Risk Conflicting classifications of pathogenicity Deficiency of adenosine deaminase 2, Autoinflammatory syndrome
RS199567160 DLX5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199567237 ARHGEF18 Health Risk Conflicting classifications of pathogenicity ARHGEF18-related disorder, Inborn genetic diseases
RS199567321 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Retinal dystrophy
RS199567872 OTOF Health Risk Conflicting classifications of pathogenicity —
RS199568344 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Budd-Chiari syndrome
RS199568537 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS199568593 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS199568784 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS199569836 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS199570117 FMN2 Health Risk Conflicting classifications of pathogenicity —
RS199570140 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 3, Achromatopsia 3
RS199570434 CD19 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS199570699 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS199570811 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS199570994 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199571440 FGA Health Risk Conflicting classifications of pathogenicity Congenital afibrinogenemia, Familial visceral amyloidosis
RS199571473 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS199571511 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS199571677 TTC8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Bardet-Biedl syndrome 8
RS199571857 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS199571930 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS199572076 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS199572129 HNF1B Health Risk Conflicting classifications of pathogenicity HNF1B-related disorder, HNF1B-related disorder
RS199572145 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS199572177 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS199572198 PNKD Health Risk Conflicting classifications of pathogenicity Paroxysmal nonkinesigenic dyskinesia, Inborn genetic diseases
RS199572263 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS199572382 SCN9A Health Risk Conflicting classifications of pathogenicity Primary erythromelalgia, Paroxysmal extreme pain disorder
RS199572387 ATIC Health Risk Conflicting classifications of pathogenicity —
RS199572606 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS199573161 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS199573401 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS199573616 CCBE1 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 1, CCBE1-related disorder
RS199573774 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS199573929 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Monogenic diabetes
RS199573967 CYP11A1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal insufficiency with 46, XY sex reversal OR 46
RS199574429 ANO3 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Inborn genetic diseases
RS199574770 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS199574831 ATP2A3 Health Risk Conflicting classifications of pathogenicity —
RS199574832 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS199574936 FSCN2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS199575087 EARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Inborn genetic diseases
RS199575353 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS199575418 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS199575501 IFT80 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2
RS199575659 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS199575734 GPSM2 Health Risk Conflicting classifications of pathogenicity Chudley-McCullough syndrome, Chudley-McCullough syndrome
RS199575834 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 15, Primary ciliary dyskinesia
RS199575892 ITGA2 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 9, Inborn genetic diseases
RS199575994 RTTN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199576006 CEP104 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 25, Inborn genetic diseases
RS199576301 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS199576799 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS199576800 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS199577218 ROBO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199577239 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS199577321 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1S
RS199577452 COL9A3 Health Risk Conflicting classifications of pathogenicity Intervertebral disc disorder, Stickler syndrome
RS199577453 LMNB2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 9, Lipodystrophy
RS199577930 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS199578024 GPAA1 Health Risk Conflicting classifications of pathogenicity Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15
RS199578341 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 3
RS199578594 PLEKHM2 Health Risk Conflicting classifications of pathogenicity PLEKHM2-related disorder, PLEKHM2-related disorder
RS199578614 FANCF Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group F
RS199579217 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS199579239 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS199580542 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS199581885 FOXP2 Health Risk Conflicting classifications of pathogenicity —
RS199581970 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS199581971 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS199582045 SYT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199582086 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS199582765 SPEG Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS199583004 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS199583058 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 45, CNGB1-related disorder
RS199583130 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Congenital anomaly of kidney and urinary tract
RS199583149 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS199583200 CEP290 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome
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